{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T17:23:25Z","timestamp":1787765005667,"version":"build-2784847793"},"reference-count":9,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2023,10]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>A pregnant woman was revealed to have an unusual position of the fetal hand by a routine 12-week ultrasound. Bilateral adducted thumbs and a male phenotype were confirmed by another ultrasound at 14 weeks\u2019 gestation. A structural survey at 18 weeks revealed fetal hydrocephalus with severe bilateral ventriculomegaly. The pregnancy was terminated, and postnatal examination with trio exome sequencing detected a hemizygous deletion (1,511 bp in size) variant of L1CAM gene in the fetus, inherited from the mother. The fetus was diagnosed as L1 syndrome (X-linked hydrocephalus). A family study found that this was a familial mutant allele. This study demonstrates that fetal hand abnormalities can be identified in the first trimester. Adducted thumbs might indicate the maldevelopment of the fetal brain, and therefore, examination of fetal hands and fingers should be integrated into fetal anomaly scans.<\/jats:p>","DOI":"10.4103\/jmu.jmu_43_22","type":"journal-article","created":{"date-parts":[[2023,12,26]],"date-time":"2023-12-26T08:00:10Z","timestamp":1703577610000},"page":"331-333","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":0,"title":["Adducted Thumb in the First Trimester of Pregnancy: An Early Clue to Prenatal Diagnosis of L1 Syndrome"],"prefix":"10.4103","volume":"31","author":[{"given":"Yan-Dong","family":"Yang","sequence":"first","affiliation":[{"name":"Department of Ultrasound, The Sixth Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong-Zhi","family":"Li","sequence":"additional","affiliation":[{"name":"Prenatal Diagnostic Center, Guangzhou Women and Children\u2019s Medical Center, Guangzhou, Guangdong, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","published-online":{"date-parts":[[2022,9,29]]},"reference":[{"key":"R1-20240830","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1136\/jmg.23.1.23","article-title":"X linked hydrocephalus: A survey of a 20 year period in Victoria, Australia","volume":"23","author":"Halliday","year":"1986","journal-title":"J Med Genet"},{"key":"R2-20240830","doi-asserted-by":"crossref","first-page":"211","DOI":"10.1002\/jcu.1870210313","article-title":"Prenatal diagnosis of X-linked hydrocephalus","volume":"21","author":"Brocard","year":"1993","journal-title":"J Clin Ultrasound"},{"key":"R3-20240830","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1002\/pd.1970140110","article-title":"Prenatal diagnosis of X-linked hydrocephalus in a Chinese family with four successive affected pregnancies","volume":"14","author":"Ko","year":"1994","journal-title":"Prenat Diagn"},{"key":"R4-20240830","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1016\/j.tjog.2022.02.027","article-title":"Adducted thumb may not be mandatory for prenatal diagnosis of X-linked hydrocephalus in early second trimester","volume":"61","author":"Izumi","year":"2022","journal-title":"Taiwan J Obstet Gynecol"},{"key":"R5-20240830","doi-asserted-by":"crossref","first-page":"153","DOI":"10.1016\/j.ejmg.2012.11.004","article-title":"Adducted thumbs: A clinical clue to genetic diagnosis","volume":"56","author":"Verhagen","year":"2013","journal-title":"Eur J Med Genet"},{"key":"R6-20240830","doi-asserted-by":"crossref","first-page":"1285","DOI":"10.1080\/14767058.2017.1315096","article-title":"Prenatal diagnosis of fetal adducted thumbs","volume":"31","author":"Gilboa","year":"2018","journal-title":"J Matern Fetal Neonatal Med"},{"key":"R7-20240830","doi-asserted-by":"crossref","first-page":"117","DOI":"10.1002\/pd.4724","article-title":"Routine screening for fetal limb abnormalities in the first trimester","volume":"36","author":"Liao","year":"2016","journal-title":"Prenat Diagn"},{"key":"R8-20240830","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1002\/uog.17246","article-title":"Systematic review of first-trimester ultrasound screening for detection of fetal structural anomalies and factors that affect screening performance","volume":"50","author":"Karim","year":"2017","journal-title":"Ultrasound Obstet Gynecol"},{"key":"R9-20240830","doi-asserted-by":"crossref","first-page":"107","DOI":"10.1002\/ajmg.1320570122","article-title":"Spectrum of X-linked hydrocephalus (HSAS), MASA syndrome, and complicated spastic paraplegia (SPG1): Clinical review with six additional families","volume":"57","author":"Schrander-Stumpel","year":"1995","journal-title":"Am J Med Genet"}],"container-title":["Journal of Medical Ultrasound"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/10.4103\/jmu.jmu_43_22","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,26]],"date-time":"2026-08-26T16:55:49Z","timestamp":1787763349000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/10.4103\/jmu.jmu_43_22"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,9,29]]},"references-count":9,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2023]]}},"URL":"https:\/\/doi.org\/10.4103\/jmu.jmu_43_22","relation":{},"ISSN":["0929-6441","2212-1552"],"issn-type":[{"value":"0929-6441","type":"print"},{"value":"2212-1552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,9,29]]},"assertion":[{"value":"2022-05-12","name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2022-07-19","name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}}]}}